MCID: GM1005
MIFTS: 34

Gm1-Gangliosidosis, Type Ii

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Bone diseases, Metabolic diseases

Aliases & Classifications for Gm1-Gangliosidosis, Type Ii

MalaCards integrated aliases for Gm1-Gangliosidosis, Type Ii:

Name: Gm1-Gangliosidosis, Type Ii 54 13
Gm1 Gangliosidosis Type 2 50 56 29
Gangliosidosis Generalized Gm1 Type 2 50 71
Gangliosidosis, Generalized Gm1, Late-Infantile Type 29
Gangliosidosis Generalized Gm1 Late Infantile Type 71
Gangliosidosis Generalized Gm1 Juvenile Type 50
Gm1-Gangliosidosis Generalized Juvenile Type 71
Gangliosidosis, Generalized Gm1, Type 2 69
Late-Infantile Gm1 Gangliosidosis 56
Juvenile Gm1 Gangliosidosis 56
Gm1 Gangliosidosis Type Ii 24
Gm1-Gangliosidosis 2 71
Gm1g2 71

Characteristics:

Orphanet epidemiological data:

56
gm1 gangliosidosis type 2
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
onset of disease 7 months to 3 years
survival to 10 years


HPO:

32
gm1-gangliosidosis, type ii:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Gm1-Gangliosidosis, Type Ii

OMIM : 54
GM1-gangliosidosis type II is an autosomal recessive lysosomal storage disease characterized by slowly progressive generalized neurodegeneration and mild skeletal changes, with onset between 7 months and 3 years of age. Unlike the severe infantile type I, type II is usually not associated with macular cherry-red spots or organomegaly. Within type II, those with somewhat earlier onset and earlier death are considered to have the 'late-infantile' form, whereas those with slightly later onset and survival into late childhood are referred to as having the 'juvenile' form (Caciotti et al., 2003). However, there is no strict age marker to distinguish between these 2 type II forms. GLB1 enzyme activity in type II ranges from approximately 1 to 4% of control values (Nishimoto et al., 1991; Yoshida et al., 1991). (230600)

MalaCards based summary : Gm1-Gangliosidosis, Type Ii, is also known as gm1 gangliosidosis type 2, and has symptoms including optic atrophy, ataxia and ventriculomegaly. An important gene associated with Gm1-Gangliosidosis, Type Ii is GLB1 (Galactosidase Beta 1). The drugs Miglustat and 1-Deoxynojirimycin have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and bone.

NIH Rare Diseases : 50 gm1 gangliosidosis is an inheritedlysosomal storage disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. the condition may be classified into three major types based on the general age that signs and symptoms first appear: classic infantile (type 1); juvenile (type 2); and adult onset or chronic (type 3). although the types differ in severity, their features may overlap significantly. gm1 gangliosidosis is caused by mutations in the glb1 gene and is inherited in an autosomal recessive manner. treatment is currently symptomatic and supportive. last updated: 11/17/2015

UniProtKB/Swiss-Prot : 71 GM1-gangliosidosis 2: A gangliosidosis characterized by onset between ages 1 and 5. The main symptom is locomotor ataxia, ultimately leading to a state of decerebration with epileptic seizures. Patients do not display the skeletal changes associated with the infantile form, but they nonetheless excrete elevated amounts of beta-linked galactose-terminal oligosaccharides. Inheritance is autosomal recessive.

Related Diseases for Gm1-Gangliosidosis, Type Ii

Symptoms & Phenotypes for Gm1-Gangliosidosis, Type Ii

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Eyes:
optic atrophy

Skeletal- Pelvis:
coxa valga
mild flaring of iliac wings

Head And Neck- Face:
normal facies

Abdomen- Spleen:
no splenomegaly

Laboratory- Abnormalities:
decreased beta-galactosidase activity (leukocyte, fibroblast, plasma)

Neurologic- Central Nervous System:
ventriculomegaly
cerebral atrophy
spastic quadriplegia
myoclonic seizures
developmental arrest, 2nd year of life
more
Skeletal- Spine:
mild platyspondyly

Abdomen- Liver:
no hepatomegaly

Hematology:
sea-blue histiocyte (bone marrow)


Clinical features from OMIM:

230600

Human phenotypes related to Gm1-Gangliosidosis, Type Ii:

32 (show all 16)
id Description HPO Frequency HPO Source Accession
1 optic atrophy 32 HP:0000648
2 ataxia 32 HP:0001251
3 ventriculomegaly 32 HP:0002119
4 cerebral atrophy 32 HP:0002059
5 coxa valga 32 HP:0002673
6 platyspondyly 32 HP:0000926
7 spastic tetraplegia 32 HP:0002510
8 progressive psychomotor deterioration 32 HP:0007272
9 gait disturbance 32 HP:0001288
10 generalized myoclonic seizures 32 HP:0002123
11 developmental stagnation 32 HP:0007281
12 abnormality of the face 32 HP:0000271
13 abnormality of the spleen 32 HP:0001743
14 abnormality of the liver 32 HP:0001392
15 sea-blue histiocytosis 32 HP:0001982
16 decreased beta-galactosidase activity 32 HP:0008166

Drugs & Therapeutics for Gm1-Gangliosidosis, Type Ii

Drugs for Gm1-Gangliosidosis, Type Ii (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 9)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Miglustat Approved Phase 4 72599-27-0 51634
2
1-Deoxynojirimycin Experimental Phase 4 19130-96-2 1374
3 Anti-HIV Agents Phase 4
4 Anti-Infective Agents Phase 4
5 Anti-Retroviral Agents Phase 4
6 Antiviral Agents Phase 4
7 Cardiac Glycosides Phase 4
8 Glycoside Hydrolase Inhibitors Phase 4
9 Hypoglycemic Agents Phase 4

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Synergistic Enteral Regimen for Treatment of the Gangliosidoses Active, not recruiting NCT02030015 Phase 4 miglustat
2 Nervous System Degeneration in Glycosphingolipid Storage Disorders Recruiting NCT00029965

Search NIH Clinical Center for Gm1-Gangliosidosis, Type Ii

Genetic Tests for Gm1-Gangliosidosis, Type Ii

Genetic tests related to Gm1-Gangliosidosis, Type Ii:

id Genetic test Affiliating Genes
1 Gm1 Gangliosidosis Type 2 29
2 Gangliosidosis, Generalized Gm1, Late-Infantile Type 29
3 Gm1 Gangliosidosis Type Ii 24 GLB1

Anatomical Context for Gm1-Gangliosidosis, Type Ii

MalaCards organs/tissues related to Gm1-Gangliosidosis, Type Ii:

39
Brain, Spinal Cord, Bone, Liver, Bone Marrow, Spleen, Eye

Publications for Gm1-Gangliosidosis, Type Ii

Articles related to Gm1-Gangliosidosis, Type Ii:

id Title Authors Year
1
Studies on GM1-gangliosidosis, type II. ( 4217089 )
1974

Variations for Gm1-Gangliosidosis, Type Ii

UniProtKB/Swiss-Prot genetic disease variations for Gm1-Gangliosidosis, Type Ii:

71 (show all 19)
id Symbol AA change Variation ID SNP ID
1 GLB1 p.Arg49Cys VAR_003329
2 GLB1 p.Arg201Cys VAR_003332
3 GLB1 p.Arg590His VAR_008683
4 GLB1 p.Glu632Gly VAR_008686
5 GLB1 p.Arg201His VAR_013542
6 GLB1 p.Gly579Asp VAR_013555
7 GLB1 p.Arg68Trp VAR_026130
8 GLB1 p.Leu155Arg VAR_037939
9 GLB1 p.Arg68Gln VAR_062341
10 GLB1 p.Arg148Cys VAR_062346
11 GLB1 p.Leu264Ser VAR_062355
12 GLB1 p.Tyr333His VAR_062359
13 GLB1 p.Gly262Glu VAR_074057
14 GLB1 p.Phe314Leu VAR_074059
15 GLB1 p.Leu337Pro VAR_074061
16 GLB1 p.Gly414Val VAR_074062
17 GLB1 p.Lys493Asn VAR_074063
18 GLB1 p.Pro597Leu VAR_074065
19 GLB1 p.Thr600Ile VAR_074066

ClinVar genetic disease variations for Gm1-Gangliosidosis, Type Ii:

6 (show all 23)
id Gene Variation Type Significance SNP ID Assembly Location
1 GLB1 NM_000404.3(GLB1): c.1445G> A (p.Arg482His) single nucleotide variant Pathogenic rs72555391 GRCh37 Chromosome 3, 33058235: 33058235
2 GLB1 NM_000404.3(GLB1): c.622C> T (p.Arg208Cys) single nucleotide variant Pathogenic rs72555366 GRCh37 Chromosome 3, 33099692: 33099692
3 GLB1 NM_000404.3(GLB1): c.202C> T (p.Arg68Trp) single nucleotide variant Pathogenic rs72555370 GRCh37 Chromosome 3, 33114079: 33114079
4 GLB1 NM_000404.3(GLB1): c.176G> A (p.Arg59His) single nucleotide variant Pathogenic rs72555392 GRCh37 Chromosome 3, 33114105: 33114105
5 GLB1 NM_000404.3(GLB1): c.1004C> T (p.Ala335Val) single nucleotide variant Likely pathogenic rs398123347 GRCh37 Chromosome 3, 33087676: 33087676
6 GLB1 NM_000404.3(GLB1): c.1174_1175delCT (p.Leu392Valfs) deletion Pathogenic rs398123348 GRCh37 Chromosome 3, 33063116: 33063117
7 GLB1 NM_000404.3(GLB1): c.1310A> T (p.Asn437Ile) single nucleotide variant Likely pathogenic rs202237232 GRCh37 Chromosome 3, 33059977: 33059977
8 GLB1 NM_000404.3(GLB1): c.1456_1466dupGGTGCATATAT (p.Ile489Metfs) duplication Pathogenic rs398123349 GRCh37 Chromosome 3, 33058214: 33058224
9 GLB1 NM_000404.3(GLB1): c.171C> G (p.Tyr57Ter) single nucleotide variant Pathogenic rs398123350 GRCh37 Chromosome 3, 33114110: 33114110
10 GLB1 NM_000404.3(GLB1): c.1769G> A (p.Arg590His) single nucleotide variant Pathogenic rs398123351 GRCh37 Chromosome 3, 33038802: 33038802
11 GLB1 NM_000404.3(GLB1): c.397-1G> A single nucleotide variant Pathogenic rs398123353 GRCh37 Chromosome 3, 33109783: 33109783
12 GLB1 NM_000404.3(GLB1): c.442C> T (p.Arg148Cys) single nucleotide variant Pathogenic rs192732174 GRCh37 Chromosome 3, 33109737: 33109737
13 GLB1 NM_000404.3(GLB1): c.457+2T> C single nucleotide variant Pathogenic rs398123354 GRCh37 Chromosome 3, 33109720: 33109720
14 GLB1 NM_000404.3(GLB1): c.51dupT (p.Leu18Serfs) duplication Pathogenic rs398123356 GRCh37 Chromosome 3, 33138527: 33138527
15 GLB1 NM_000404.3(GLB1): c.75+1G> C single nucleotide variant Pathogenic rs398123358 GRCh37 Chromosome 3, 33138502: 33138502
16 GLB1 NM_000404.3(GLB1): c.901G> A (p.Ala301Thr) single nucleotide variant Likely pathogenic rs727503954 GRCh38 Chromosome 3, 33051896: 33051896
17 GLB1 NM_000404.3(GLB1): c.1077delA (p.Val360Tyrfs) deletion Pathogenic rs727503952 GRCh37 Chromosome 3, 33065809: 33065809
18 GLB1 NM_000404.3(GLB1): c.1A> C (p.Met1Leu) single nucleotide variant Likely pathogenic rs794726886 GRCh37 Chromosome 3, 33138577: 33138577
19 GLB1 NM_000404.3(GLB1): c.1768C> T (p.Arg590Cys) single nucleotide variant Pathogenic rs794727165 GRCh37 Chromosome 3, 33038803: 33038803
20 GLB1 NM_000404.3(GLB1): c.169delT (p.Tyr57Thrfs) deletion Pathogenic rs794727249 GRCh37 Chromosome 3, 33114112: 33114112
21 GLB1 NM_000404.3(GLB1): c.602G> A (p.Arg201His) single nucleotide variant Pathogenic rs189115557 GRCh37 Chromosome 3, 33099712: 33099712
22 GLB1 NM_000404.3(GLB1): c.1733A> G (p.Lys578Arg) single nucleotide variant Pathogenic rs371582179 GRCh37 Chromosome 3, 33055549: 33055549
23 GLB1 NM_000404.3(GLB1): c.245+1G> A single nucleotide variant Likely pathogenic rs778423653 GRCh37 Chromosome 3, 33114035: 33114035

Expression for Gm1-Gangliosidosis, Type Ii

Search GEO for disease gene expression data for Gm1-Gangliosidosis, Type Ii.

Pathways for Gm1-Gangliosidosis, Type Ii

GO Terms for Gm1-Gangliosidosis, Type Ii

Sources for Gm1-Gangliosidosis, Type Ii

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70 UMLS via Orphanet
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